Metaphyseal chondrodysplasia, Schmid type

Metaphyseal chondrodysplasia, Schmid type (MCDS; MIM 156500) is an autosomal dominant disorder caused by mutations in COL10A1. Bowing of the extremities, mild short stature and a waddling gait are evident at a young age. The patients may also have enlarged wrists and flaring of the rib cage.read more

Metaphyseal chondrodysplasia, Schmid type (MCDS; MIM 156500) is an autosomal dominant disorder caused by mutations in COL10A1. Bowing of the extremities, mild short stature and a waddling gait are evident at a young age. The patients may also have enlarged wrists and flaring of the rib cage. The phenotype of MCDS also overlaps with that of metaphyseal dysplasia without hypotrichosis (CHHV; MIM 250460).